Incidental Mutation 'R2075:Hspb2'
ID 227535
Institutional Source Beutler Lab
Gene Symbol Hspb2
Ensembl Gene ENSMUSG00000038086
Gene Name heat shock protein 2
Synonyms HSP27, 2810021G24Rik, 27kDa, MKBP
MMRRC Submission 040080-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R2075 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 50662378-50663654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50662646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 67 (Y67C)
Ref Sequence ENSEMBL: ENSMUSP00000148970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034562] [ENSMUST00000034564] [ENSMUST00000042790] [ENSMUST00000214609] [ENSMUST00000214962] [ENSMUST00000217159] [ENSMUST00000217475] [ENSMUST00000216755]
AlphaFold Q99PR8
Predicted Effect probably benign
Transcript: ENSMUST00000034562
SMART Domains Protein: ENSMUSP00000034562
Gene: ENSMUSG00000032060

DomainStartEndE-ValueType
Pfam:Crystallin 1 56 7.3e-32 PFAM
Pfam:HSP20 67 162 2.1e-27 PFAM
low complexity region 166 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000034564
SMART Domains Protein: ENSMUSP00000034564
Gene: ENSMUSG00000032062

DomainStartEndE-ValueType
Pfam:DUF4578 15 140 1.7e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042790
AA Change: Y161C

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042374
Gene: ENSMUSG00000038086
AA Change: Y161C

DomainStartEndE-ValueType
Pfam:Crystallin 14 55 1.6e-8 PFAM
Pfam:HSP20 66 163 5.7e-19 PFAM
low complexity region 166 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214609
Predicted Effect probably benign
Transcript: ENSMUST00000214962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216393
Predicted Effect probably benign
Transcript: ENSMUST00000217159
AA Change: Y67C

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217475
Predicted Effect probably benign
Transcript: ENSMUST00000216755
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated in the heart exhibit reduced state 3 mitochondrial respiration and ATP production following transverse aortic constriction despite normal cardiac hypertrophic response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,472,382 (GRCm39) F4263L probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Atic T A 1: 71,615,286 (GRCm39) D438E probably benign Het
Bahcc1 G A 11: 120,162,515 (GRCm39) C271Y probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ccdc149 A G 5: 52,596,510 (GRCm39) L34P probably damaging Het
Cd22 C G 7: 30,569,123 (GRCm39) C637S probably damaging Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chmp1a A T 8: 123,934,761 (GRCm39) M65K probably damaging Het
Clec16a G A 16: 10,559,480 (GRCm39) A918T probably benign Het
Clec2m C T 6: 129,303,666 (GRCm39) E100K probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dhx32 T C 7: 133,323,021 (GRCm39) N731S probably benign Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dna2 A G 10: 62,805,601 (GRCm39) Q946R probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Esr2 A G 12: 76,212,221 (GRCm39) probably null Het
Fbxo9 G T 9: 77,991,798 (GRCm39) H397N possibly damaging Het
Fsip2 T A 2: 82,818,923 (GRCm39) N4885K possibly damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Hivep1 A G 13: 42,309,794 (GRCm39) D678G probably damaging Het
Hmcn1 T A 1: 150,453,074 (GRCm39) I5414F possibly damaging Het
Kbtbd8 T A 6: 95,103,664 (GRCm39) C438S possibly damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Ky A G 9: 102,419,945 (GRCm39) S651G probably damaging Het
Lgals12 T C 19: 7,576,210 (GRCm39) D238G possibly damaging Het
Lpcat3 T A 6: 124,680,066 (GRCm39) Y380N probably damaging Het
Mdn1 A G 4: 32,716,058 (GRCm39) H2080R probably benign Het
Mex3c C T 18: 73,722,840 (GRCm39) S311L probably benign Het
Mlh3 A T 12: 85,315,915 (GRCm39) Y90* probably null Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Myo5a A T 9: 75,097,200 (GRCm39) T49S probably benign Het
Nsd1 T C 13: 55,458,313 (GRCm39) V2142A possibly damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or51b17 T A 7: 103,542,127 (GRCm39) I272F probably damaging Het
Or51i2 T A 7: 103,689,180 (GRCm39) M59K probably damaging Het
Or5ac19 T C 16: 59,089,274 (GRCm39) Y252C possibly damaging Het
Pdgfra T C 5: 75,348,609 (GRCm39) I883T probably damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf24 A G 4: 42,939,507 (GRCm39) Y333C possibly damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Piezo2 C T 18: 63,214,805 (GRCm39) E1263K probably damaging Het
Pitrm1 A G 13: 6,605,419 (GRCm39) T149A probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Polr2c A G 8: 95,590,195 (GRCm39) I267V probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Prss8 C A 7: 127,526,266 (GRCm39) R148L possibly damaging Het
Ptpn2 T A 18: 67,814,545 (GRCm39) T155S probably damaging Het
Ptprn2 G A 12: 117,211,337 (GRCm39) V839I probably benign Het
Sbp A G 17: 24,164,132 (GRCm39) probably null Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Slc6a20b T A 9: 123,424,099 (GRCm39) T623S probably benign Het
Sqle T A 15: 59,195,750 (GRCm39) V342E probably damaging Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnc G A 4: 63,913,903 (GRCm39) T1303M possibly damaging Het
Traf6 A C 2: 101,527,398 (GRCm39) I383L probably benign Het
Tubb3 C T 8: 124,148,009 (GRCm39) A314V probably damaging Het
Vmn1r199 A T 13: 22,567,435 (GRCm39) Y243F probably damaging Het
Vmn2r111 A C 17: 22,778,043 (GRCm39) N545K probably damaging Het
Vmn2r27 T A 6: 124,177,510 (GRCm39) Q498L possibly damaging Het
Vstm4 A T 14: 32,639,811 (GRCm39) S229C probably damaging Het
Wdr12 C T 1: 60,130,222 (GRCm39) R63Q possibly damaging Het
Wrn T A 8: 33,812,357 (GRCm39) I187L probably benign Het
Xirp2 A T 2: 67,340,545 (GRCm39) I929L probably benign Het
Ywhae T A 11: 75,655,486 (GRCm39) D252E probably benign Het
Zfp944 A T 17: 22,558,178 (GRCm39) C356* probably null Het
Other mutations in Hspb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0573:Hspb2 UTSW 9 50,662,664 (GRCm39) missense probably benign 0.43
R2169:Hspb2 UTSW 9 50,663,015 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCATACACTGTGGACCATGC -3'
(R):5'- ACTGTGGATAACCTGCTGGAG -3'

Sequencing Primer
(F):5'- ACTGTGGACCATGCACCGATG -3'
(R):5'- CCTGCTGGAGGTGTCTGC -3'
Posted On 2014-09-17